Preimplantation diagnosis and HLA typing for haemoglobin disorders

Reprod Biomed Online. 2005 Sep;11(3):362-70. doi: 10.1016/s1472-6483(10)60845-0.


Haemoglobin disorders are among the most frequent indications for preimplantation genetic diagnosis (PGD), introduced as an important option to couples at risk for producing offspring with thalassaemia and sickle cell disease. Previous experience mainly included PGD for beta-thalassaemia, while PGD for alpha-thalassaemia resulting in an unaffected pregnancy has not been reported. This study presents the results of the world's largest experience of 197 PGD cycles for haemoglobin disorders, which includes PGD for alpha-thalassaemia, resulting in 53 clinical pregnancies and birth of 45 healthy children, with five still ongoing. Fifty-four of these cycles were performed in combination with HLA typing, allowing the birth of thalassaemia-free children who were also HLA identical to the affected sibling, with successful stem cell transplantation in one case. As an increasing proportion of patients requesting PGD with HLA typing are of advanced reproductive age, aneuploidy testing was performed simultaneously with PGD. The results show that PGD has now become a practical approach for prevention of haemoglobin disorders, and is gradually being used also for improving access to HLA compatible stem cell transplantation for this group of diseases.

MeSH terms

  • Aneuploidy
  • Chromosomes, Human, Pair 11
  • Chromosomes, Human, Pair 6
  • Embryo Transfer
  • Female
  • Fertilization in Vitro
  • Hemoglobinopathies / diagnosis*
  • Hemoglobinopathies / genetics
  • Histocompatibility Testing / methods*
  • Humans
  • Male
  • Mutation
  • Pregnancy
  • Pregnancy Rate
  • Preimplantation Diagnosis / methods*
  • Thalassemia / diagnosis
  • Thalassemia / genetics